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522

High risk oesophageal cancer gene discovered

New research from Queen Mary, University of London has uncovered a gene which plays a key role in the development of oesophageal cancer (cancer of the gullet). The researchers studied families who suffer a rare inherited condition making them highly susceptible to the disease and found that a fault in a single gene was responsible. […]

523

Research on personalized tumor treatment using Roche´s GS Junior Sequencing System

The Center for Human Genetics and Laboratory Medicine Dr. Klein and Dr. Rost, and  IMGM Laboratories, both located in Martinsried Germany, reported using the Roche GS Junior Benchtop System to sequence clinically relevant exons and identify genomic variations in solid tumors treated with an antibody-based medicine. This sequencing approach, easily expanded to complete coding regions, […]

524

Fibroblasts contribute to melanoma tumour growth

Fibroblasts, cells that play a role in the structural framework of tissues, play an apparent role in melanoma tumour growth. Fibroblasts also contribute to melanoma drug resistance and may also facilitate the ‘flare’ response when a tumour’s metabolism is enhanced following a patient being removed from a targeted therapy, said researchers at Moffitt Cancer Center […]

525

Jackson Laboratory researchers find mutation causing neurodegeneration

A Jackson Laboratory research team led by Professor and Howard Hughes Medical Investigator Susan Ackerman, Ph.D., has discovered a defect in the RNA splicing process in neurons that may contribute to neurological disease. The researchers found that a mutation in just one of the many copies of a gene known as U2 snRNAs, which is […]

526

Faulty proteins may prove significant in identifying new treatments for ovarian cancer

OHSU Knight Cancer Institute study results suggest that more patients than initially thought could potentially be treated with a new class of drugs, PARP inhibitors A constellation of defective proteins suspected in causing a malfunction in the body’s ability to repair its own DNA could be the link scientists need to prove a new class […]

527

Safe way to repair sickle cell disease genes developed

Sickle cell disease is a group of inherited blood disorders caused by genetic mutations in the beta-globin gene, resulting in abnormal haemoglobin. Red blood cells become hard, sticky and sickle-shaped, with reduced ability to carry oxygen. Symptoms of sickle cell disease include swelling of the hands and feet, pain due to clogging of blood vessels, […]

528

Strong indicator for determining treatment and outcome for patients with oligodendroglioma brain tumours

A recent analysis of clinical trial results performed by the Radiation Therapy Oncology Group (RTOG) demonstrate that a chromosomal abnormality—specifically, the absence (co-deletion) of chromosomes 1p and 19q—have definitive prognostic and predictive value for managing the treatment of adult patients with pure and mixed anaplastic oligodendrogliomas. The presence of the chromosomal abnormality was associated with […]

529

Identifying SMPX mutations underlying human hereditary hearing loss

Hereditary hearing loss is the most common sensory disorder in humans. A German research team led by Ingo Kurth from the Institute of Human Genetics at the University Hospital Jena, Germany, used a number of different methods, including Roche’s NimbleGen Custom Sequence Capture 385K array to identify the gene mutated in the disease locus of […]

530

Reprogrammed oestrogen binding linked to more aggressive breast cancer

Scientists based at the Cancer Research UK Cambridge Research Institute have discovered how receptors for the female sex hormone oestrogen attach to a different part of the DNA in breast cancer patients who are more likely to relapse, according to a study. Crucially, they also found that within these more aggressive breast cancers, the oestrogen […]